The Validation of DECT as a Quantitative Measure of Gaucher Infiltration Open Access

Schlager, Samuel Harrison (2016)

Permanent URL: https://etd.library.emory.edu/concern/etds/xg94hp73m?locale=en
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Abstract

Gaucher's disease is one of the most common orphan diseases affecting approximately one in 50,000 people born by conservative estimations. The cells of individuals afflicted with Gaucher's disease have dysfunctional beta-glucocerebrosidase, which leads to a buildup of the substrate glucosylceramide in the cell. This primarily affects the liver, spleen, and bone marrow in individuals with the less severe type 1 classifications, while neurons are also affect in the more severe type 2 and 3 classifications. Treatment options are available for type one individuals, but there currently is no quantitative diagnostic assessment of infiltration of Gaucher cells in tissues. Most radiological assessments use MRI in a semi-quantitative fashion to assess Gaucher's disease. However, semi-quantitative have a limited diagnostic capacity. Here we propose and validate that DECT is a more precise diagnostic alternative with quantitative abilities through the use of phantoms as well as genetically modified mouse livers and spleens. Ability to distinguish between red and yellow bone marrow using DECT was also attempted though those results proved inconclusive.

Table of Contents

Introduction-1

Gaucher's Disease-1

Enzyme Replacement Therapy and Substrate Reduction Therapy-2

Currently Used Diagnostic Techniques-3

Proposed Radiological Assessment Techniques-4

Alternative Radiological Techniques-5

Gaucher's Disease Animal Model-7

Hypothesis-9

Materials and Methods-10

Validation of DECT with standards-10

Analysis of standards-11

Validation of DECT with marrow samples-11

Analysis of marrow samples-12

Mouse Models-12

Imaging of mouse model specimens-13

Analysis of mouse model images-13

Results-14

Phantom Trial-14

Marrow results-16

Mouse Model results-18

Discussion-23

Limitation and Future Directions-24

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